Table 4 Comparison of the genotype between patients with and without arrhythmia and with normal or decreased ejection fraction
From: Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study
| Ā | Non-sustained ventricular tachycardia | Left-ventricular ejection fraction | ||||
|---|---|---|---|---|---|---|
Present (nā=ā20) | Absent (nā=ā64)a | p value | ā<ā55% (nā=ā7) | āā„ā55% (nā=ā77) | p value | |
Type of variant | ||||||
Ā Missense (%) | 7 (35) | 35 (54.7) | 0.100 | 1 (14.3) | 41 (52.6) | 0.058 |
Ā Inframe (%) | 1 (5) | 0 (0) | 0.238 | 0 (0) | 1 (10.3) | 0.918 |
Ā Frameshift (%) | 5 (25) | 14 (21.9) | 0.494 | 4 (57.1) | 16 (20.5) | 0.050 |
Ā Nonsense (%) | 4 (20) | 11 (17.2) | 0.747 | 0 (0) | 15 (19.2) | 0.243 |
Ā Splice-site (%) | 3 (15) | 4 (6.3) | 0.349 | 2 (28.6) | 5 (6.4) | 0.100 |
Effect on the protein | ||||||
Ā Haploinsufficiency (%) | 9 (45) | 24 (37.5) | 0.128 | 4 (57.1) | 30 (38.5) | 0.283 |
Localization: exon | ||||||
Ā Exon 24ā32 (%) | 2 (10) | 8 (12.5) | 0.559 | 0 (0) | 10 (12.8) | 0.402 |